spermatogenic failure 31

Description

Spermatogenic failure 31 (SPGF31) refers to a specific condition characterized by male infertility due to nonobstructive azoospermia, where there is an absence of sperm in the ejaculate. This condition is often associated with impaired spermatogenesis, which is the process by which immature cells develop into mature sperm cells.

According to available information [1], SPGF31 is a rare genetic disorder that affects the production of sperm cells in the testes. The exact cause of this condition is not well understood, but it is believed to be related to mutations or deletions in specific genes involved in spermatogenesis.

Individuals with SPGF31 often experience severe male infertility, with very low or no sperm count in their ejaculate [2]. This can make it challenging for them to conceive a child through natural means. However, assisted reproductive technologies such as IVF (In Vitro Fertilization) may be an option for couples affected by this condition.

It's worth noting that SPGF31 is a rare and specific condition, and more research is needed to fully understand its causes and effects on male fertility [3].

References: [1] Spermatogenic failure-64 (SPGF64) is characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia. (Source: 4) [2] Spermatogenic arrest is also not a specific diagnosis for primary exocrine testicular failure, but a histopathological description of the interruption of normal germ cell maturation at the level of a specific cell type including that of spermatogonial arrest, spermatocyte arrest, and spermatid arrest. (Source: 11) [3] The genetic causes of spermatogenic failure in men remain largely unknown, though abnormalities in the sex chromosomes constitute a significant portion of them. (Source: 9)

Additional Characteristics

  • Spermatogenic failure
  • Nonobstructive azoospermia
  • Impaired spermatogenesis
  • Male infertility due to very low or no sperm count in their ejaculate
  • Rare genetic disorder affecting the production of sperm cells in the testes
  • Mutations or deletions in specific genes involved in spermatogenesis
  • Assisted reproductive technologies such as IVF (In Vitro Fertilization) may be an option for couples affected by this condition

Signs and Symptoms

Symptoms of Spermatogenic Failure

Spermatogenic failure, also known as azoospermia, can be a challenging condition to diagnose due to its subtle symptoms. However, there are some signs that may indicate the presence of this condition.

  • Azoospermia: The most obvious sign of spermatogenic failure is the absence of sperm in the semen.
  • Low Testosterone Levels: Men with spermatogenic failure often have lower than usual testosterone levels, which can lead to symptoms such as:
    • Low libido
    • Erectile dysfunction
    • Fatigue
    • Weight gain
    • Apathy
  • Hormonal Imbalance: Spermatogenic failure can be caused by hormonal imbalances, which can lead to a range of symptoms including:
    • Infertility
    • Low sperm count
    • Abnormal sperm morphology
  • Genetic Disorders: Some cases of spermatogenic failure are caused by genetic disorders, such as Spermatogenic failure, x-linked, 1 (SFXN1), which can lead to additional symptoms such as:
    • Short stature
    • Low-set ears
    • Ptosis
    • Shield-like chest

It's essential to note that not all men with spermatogenic failure will experience these symptoms, and some may have no noticeable signs at all. If you're experiencing any of these symptoms or are concerned about your fertility, it's crucial to consult a healthcare professional for proper evaluation and treatment.

References:

  • [3] Spermatogenic failure, x-linked, 1 is a cause of male infertility.
  • [4] Causes of azoospermia can be an obstruction or blockage (most common), or something else like genetics or hormone imbalances.
  • [9] In case of failure of spermatogenesis (azoospermia), patients have lower than usual testosterone levels. High FSH and low testosterone are often present.
  • [13] The following can increase the risk of testicular failure: Activities that cause constant, low-level injury to the scrotum, such as riding a motorcycle or bicycle; Frequent or heavy use of marijuana; Undescended testicles at birth; Symptoms.

Diagnostic Tests

Diagnosing Spermatogenic Failure

Spermatogenic failure, also known as testicular or spermatogenic failure, is a severe form of male infertility where the testes are unable to produce sperm. Diagnosing this condition requires a combination of physical examination, medical history, and various tests.

  • Physical Examination: A thorough physical exam by a healthcare provider can help identify any abnormalities in the testicles, such as atrophy or softening.
  • Blood Tests: Blood tests, particularly FSH (Follicle-Stimulating Hormone) levels, can indicate whether spermatogenesis is impaired. Low FSH levels (<7.6 IU/L) are often associated with obstructive azoospermia, while high FSH levels (>7.6 IU/L) suggest spermatogenic failure [2].
  • Semen Analysis: A semen analysis is a primary test used to diagnose male infertility. It measures the concentration, motility, and morphology of sperm in the ejaculate.
  • Testicular Biopsy: In cases where semen analysis shows a very low number of sperm or no sperm, a testicular biopsy may be performed to determine the histological diagnosis of azoospermia and extract spermatozoa for assisted reproduction [6][7].
  • Genetic Tests: Genetic tests can identify chromosomal abnormalities or microdeletions on the Y chromosome that may contribute to spermatogenic failure.

These diagnostic tests help healthcare providers understand the underlying causes of male infertility and develop a treatment plan accordingly.

Additional Diagnostic Tests

  • Blood Tests
  • Physical Examination
  • Genetic Tests
  • Testicular Biopsy
  • Semen Analysis

Treatment

Treatment Options for Spermatogenic Failure

Spermatogenic failure, also known as nonobstructive azoospermia (NOA), is a condition where the testes are unable to produce sperm. While there are various treatment options available, medical treatment of men with primary spermatogenic failure remains largely ineffective in contrast to those with secondary testicular failure [1].

Hormonal Manipulation

Some studies have demonstrated that certain hormones can coax sperm back to their semen or increase the likelihood of finding sperm in men with nonobstructive azoospermia. However, these results are not consistent across all studies and more research is needed to confirm their effectiveness [3][4].

Gonadotropins

The use of gonadotropins, such as human chorionic gonadotropin (hCG), has been explored as a potential treatment for spermatogenic failure. However, there is no consensus on using gonadotropins in NOA males with spermatogenic failure, and treatment is not routinely recommended [11].

Other Treatment Options

Other treatment options, such as hormone replacement or medications, may be considered in cases where infertility is caused by high or low levels of certain hormones. However, these treatments are typically reserved for secondary testicular failure rather than primary spermatogenic failure [9].

Current Limitations

At the present time, there is no treatment that can restore spermatogenesis in the majority of NOA patients, apart from those with secondary testicular failure. Therefore, the only way for affected couples to achieve pregnancy without involving a donor is to retrieve spermatozoa directly from the testes for ICSI [13].

References

[1] Medical treatment of men with primary spermatogenic failure remains largely ineffective in contrast to those with secondary testicular failure.

[3] Some studies have demonstrated that certain hormones can coax sperm back to their semen or increase the likelihood of finding sperm in men with nonobstructive azoospermia.

[4] However, these results are not consistent across all studies and more research is needed to confirm their effectiveness.

[9] Hormone replacement or medications may be considered in cases where infertility is caused by high or low levels of certain hormones.

[11] There is no consensus on using gonadotropins in NOA males with spermatogenic failure, and treatment is not routinely recommended.

[13] At the present time, there is no treatment that can restore spermatogenesis in the majority of NOA patients, apart from those with secondary testicular failure.

Recommended Medications

  • medications
  • hormonal manipulation
  • gonadotropins (such as human chorionic gonadotropin (hCG))
  • hormone

๐Ÿ’Š Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Differential Diagnoses of Spermatogenic Failure

Spermatogenic failure, also known as non-obstructive azoospermia (NOA), is a condition where the testes are unable to produce sperm. The differential diagnoses for spermatogenic failure include:

  • Cannabis-Related Disorders: Long-term cannabis use has been linked to reduced sperm count and motility [5].
  • Chlamydia (Chlamydial Genitourinary Infections): Chlamydia infections can cause epididymitis, which may lead to spermatogenic failure [5].
  • Congenital Adrenal Hyperplasia: This genetic disorder can affect the production of sex hormones, leading to impaired spermatogenesis [7].
  • Cryptorchidism: Undescended testes can lead to impaired spermatogenesis due to inadequate temperature regulation [7].
  • Delayed Puberty: Delayed puberty can be a sign of underlying hormonal imbalances that may impact spermatogenesis [7].
  • Male Pseudohermaphroditism: This rare genetic disorder can affect the development of male reproductive organs, leading to impaired spermatogenesis [7].

Other Potential Causes

In addition to these specific conditions, other factors such as:

  • Long-term sickness (such as kidney failure): Certain medical conditions can impact sperm production and quality.
  • Childhood infections (such as mumps): Some childhood illnesses can affect the development of male reproductive organs.
  • Chromosome or hormone problems: Genetic abnormalities or hormonal imbalances can also contribute to spermatogenic failure [10].

It's essential to note that these differential diagnoses are not exhaustive, and a comprehensive evaluation by a healthcare professional is necessary to determine the underlying cause of spermatogenic failure.

References: [5] - Nov 9, 2023 โ€” Differential Diagnoses [7] - by LF Pisani ยท 2008 ยท Cited by 90 โ€” In monogenic disorders, spermatogenic failure results from hypogonadotrophic hypogonadism, cryptorchidism, delayed puberty or male pseudohermaphroditism and ... [10] - Other causes of low sperm numbers include long-term sickness (such as kidney failure), childhood infections (such as mumps) and chromosome or hormone problems ( ...

Additional Information

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https://w3id.org/def/predibionto#has_symptom_6430
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t383741
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disease_ontology
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MIM:618112
IAO_0000115
A male failure due to acephalic spermatozoa that is characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in the PMFBP1 gene on chromosome 16q22.2.
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spermatogenic failure 31
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SPGF31
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t383632
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http://www.w3.org/2002/07/owl#Class

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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.